A previously healthy 13-year-old boy, 2 weeks prior to the presentation, developed diarrhea (3 watery stools per day non-mucoid/bloody), vomiting, and fever, was diagnosed with acute gastroenteritis and prescribed with probiotics. These symptoms resolved, but after 1 week fever recurred. Moreover, patient developed abdominal pain, located to the right upper quadrant, radiation to the right iliac fossa, variable intensity, and no specific relation to food intake. Pain in the right shoulder was also mentioned. The patient continued to worsen clinically with progressive anorexia, lethargy, and 5 kg weight loss which prompted presentation to the pediatric emergency department. He had no respiratory and urinary symptoms. There was no recent travel history or animal exposure. The patient denied either consumption of undercooked food or unbottled water. On physical examination, he was markedly pale. His abdomen was soft with diffuse mild tenderness, more significant on the right quadrants. There was no rebound tenderness located at the McBurney point. No organomegalies were found. The remaining physical examination was normal. Initial laboratory test results revealed the following: hemoglobin level, 11.2 g/dL; white blood cell count, 27.14 × 109/L (77% neutrophils, 10% lymphocytes); platelet count, 425 × 109/L; C-reactive protein level was 22.19 mg/dL; hepatic enzymes levels were high: aspartate aminotransferase, 94 U/L and alanine aminotransferase, 130 U/L. Gamma-glutamyl transferase level was 161 U/L, alkaline phosphatase level was 324 U/L, and lactate dehydrogenase level was 569 U/L. Coagulation tests were unremarkable. Blood and urine cultures were performed. A chest radiograph showed a small right-sided pleural effusion. Abdominal ultrasound demonstrated a heterogeneous and circumscribed avascular lesion between the right lobe of the liver and diaphragm. There were no signs of appendicitis. The patient was admitted to the Pediatric Unit for treatment and further investigations. A thoracic and abdominal computerized tomography (CT) was performed, revealing a large collection of a fluid content, located in the right liver lobe, measuring 15.8 × 11.6 × 4.7 cm, with an estimated volume of about 450 mL (Figure 1). This collection compressed the right inferior pulmonary lobe where was visible a pulmonary consolidation and a slight pleural effusion. These findings suggested the presence of a subcapsular liver abscess. The patient was started on intravenous antibiotics (ceftriaxone and metronidazole). A CT-guided percutaneous drainage was performed, a pig-tail drain was inserted, and purulent drainage was observed (Figure 2). Stool Entamoeba histolytica antigen and culture of the purulent drainage were sent to the laboratory.

Introduction: Acute suppurative parotitis (ASP) is a rare condition in early infancy. It usually presents unilaterally, with inflammatory signs in the parotid region and non-specific systemic symptoms. Staphylococcus aureus (S. aureus) is the most common causative agent of ASP, and male sex, prematurity, low birth weight, dehydration, parotid duct obstruction and immunosuppression are risk factors. Most reported cases occur in the neonatal period, and they can be complicated by abscesses and sepsis. Description of case: We present a case of a 57-day-old girl with a history of left submandibular tumefaction, fever, and irritability. Parotid ultrasonography revealed findings compatible with bilateral parotitis and associated phlegmon. Empirical treatment with flucloxacillin was initiated. On the sixth day, the worsening of inflammatory signs on the left side and the onset of inflammatory signs on the right side occurred, and ultrasonography revealed areas of necrotic content bilaterally. Ultrasound-guided drainage of the abscess collections isolated flucloxacillin-sensitive, penicillin-resistant S. aureus from the pus culture. Antibiotic treatment was adjusted, and the patient completed 7 days of flucloxacillin and 4 days of gentamicin treatment, with regression of the swelling and complete resolution. No risk factors for ASP were identified. An immunological study was performed, the results of which were normal. During follow-up, no recurrence or complications were reported. Conclusions: Although ASP is less frequent now than in the past, we must be aware of potentially fatal complications if adequate treatment is not initiated early. Unlike most reported cases, the present case involved an exuberant, bilateral presentation in a girl after the neonatal period, without relevant risk factors, complicated despite the initiation of antibiotic therapy. This case required the exclusion of immunodeficiency, as otolaryngological presentations are a common manifestation of immunodeficiencies.

Abstract Background and Aims There is a high-risk of progressive chronic kidney disease (CKD) in patients with neurogenic bladder (NB) and early detection of estimated glomerular filtration rate (eGFR) reduction is essential, preventing delayed diagnosis. Creatinine-based formulas can overestimate eGFR in these patients due to decreased muscle mass. This study aims to compare eGFR calculated by different equations using serum creatinine (Cr) and/or cystatin C (CysC), in children with NB, and analyse the influence of demographic variables and proteinuria. Methods Data on pediatric patients with NB and CKD stage 1 and 2, based on eGFR calculated by the CKiD-Cr formula, were collected from January 2009 to December 2022, in a Pediatric Nephrology Unit from a tertiary hospital. The eGFR was calculated using CKiD CysC, Schwartz combined Cr/CysC, Zapitelli-CysC and Zapitelli combined Cr/CysC formulas. Proteinuria was defined by urine protein-to-creatinine ratio greater than 0.2 (mg/mg). Results Fifty patients were evaluated, with a median (25th-75th percentile) age of 14.2 (9.0-16.7) years, 48% (n = 24) female, with a median height of 142 (119.8-154.3) cm, mostly below to 5th percentile (64%, n = 32) and a median body mass index of 20.5 (15.5-26.7) kg/m2, 58% (n = 29) of patients had lipo/myelomeningocele and 76% (n = 38) were classified as stage 1 CKD. The median eGFR (ml/min/1.73m2) calculated by different formulas was: CKiD-Cr 108.1 (89.2-129.6); CKiD-CysC 77.1 (59.7-87.7), CKiD- Cr/CysC 86.6 (67.4-98.1); Zapitelli-CysC 83.3 (63.3-95.7) and Zapitelli combined- Cr/CysC 101.4 (75.5-121.2). When compared to CKiD-Cr, all the CysC-based formulas showed significantly lower values of eGFR (p<0.01). No statistical differences were obtained in eGFR calculated by CKiD-Cr and CKiD-CysC equations regarding age, sex, percentile of height or body mass index. In patients without independent gait (wheelchair or orthosis), with more muscle atrophy and underdeveloped lower limbs (54%, n = 27), the eGFR calculated by CKiD- Cr equation was higher than in the patients who are ambulatory (119.0 (102.8-150.0) vs 91.6 (64.5-111.8); p<0.01). On the other hand, there were no differences regarding eGFR obtained by CKiD-CysC in those two groups of patients (p = 0.640). Proteinuria was detected in 39% (n = 15) of the patients with stage 1 CKD and of these 87% (n = 13) had CKD upstaging using CKiD-CysC equation. In addition, the difference between the median Cr-eGFR and CysC-eGFR was significantly higher in the group of patients with proteinuria (53.0 (36.2-59.7) vs 32.6 (13.4-45.9); p = 0.007). Proteinuria was significantly higher in the group of children with more muscle atrophy, without independent gait (wheelchair or orthosis) compared to ambulatory (0.30 (0.12-0.43) vs 0.12 (0.06-0.20); p = 0.021). Conclusions In pediatric patients with NB and poor muscle mass Cr-based formulas can overestimate eGFR and delay the diagnosis and correct staging of CKD. In these patients CysC-based equations seem to be more reliable in assessing kidney function. In children with NB proteinuria appears to be a possible early and sensitive marker of CKD progression, mostly in those with more muscle depletion.

Abstract Background and Aims In the pediatric population, transplantation remains the first-line therapy in patients with end-stage renal disease (ESRD). However, it is not always possible, increasing the need for other kidney replacement therapy (KRT) modalities, and hemodialysis (HD) has been growing as a modality choice in recent years. To provide quality HD treatment, efficient vascular access is mandatory, and the arteriovenous fistula (AVF) is advocated as the best long-term access option. However, its creation is technically challenging, and its development and maintenance are some of the most difficult elements in the pediatric population. In this study, we describe our experience in the utilization of AVFs in children and adolescents on HD. Method We conducted a retrospective study including all the AVFs performed in our center on underage patients between January 2006 and December 2022. We reviewed the medical records, collected data on demographic variables, AVF characteristics, blood test results, and clinical outcomes. Statistical analysis was performed using SPSS software. Results Forty-three AVFs were performed in 32 pediatric patients. The median age at first AVF construction was 13.5 years (min 4.8; max 17.9). The most frequent etiology of ESRD was congenital anomalies of kidney and urinary tract (n = 20, 62.5%) and most patients (n = 24, 75.0%) were already receiving KRT. Median follow-up time was 16.4 months (min 1; max 98.4) and, at the end of the follow-up period, most patients (n = 22, 68.8%) were transplanted. The mortality rate was 6.3% (n = 2). In what concerns to the location of the AVF, radiocephalic was the first choice in 46.9% of the cases (n = 15), accounting for 34.9% of the total AVFs. Brachiocephalic location was used in 34.4% (n = 11) of first fistulas and 6 subsequent accesses, accounting for 39.5% of the total AVFs. The brachiobasilic location was chosen in 18.8% (n = 6) of the first AVFs and 25.6% of the total AVFs. Primary AVF failure occurred in 26.6% (n = 11) cases and, in 4 of these (36.4%), it was possible to successfully use the same location for a second AVF. We observed no statistical association between primary AVF failure dysfunction and gender, age at the construction of the first fistula, AVF location, or dialysis vintage. Platelet-lymphocyte (PLR) and neutrophil-lymphocyte (NLR) ratios also did not differ between groups. Primary and secondary patency rates at one year were, respectively, 62.5% and 93.8%. With respect to total AVF complications, we observed: thrombosis (27.9%), stenosis (18.6%), distal ischemia induced by vascular access (4.7%), and high flow/aneurismatic dilations (18.6%). The presence of complications was statistically related to age (p = 0.046), with more events in older patients at the time of AVF construction. There was no statistical difference between complications’ occurrence and AVF type, sex, gender, PLR, and NLR. Conclusion The utilization of AVF for HD has been growingly recognized as a safe and efficient alternative for the performance of KRT in pediatric patients. Although larger studies are needed, we demonstrate positive results in its usage in a pediatric population, with high primary and secondary patency rates. These outcomes were independent of the AVF location. We also advocate AVF usage in younger patients, as complications were associated with older age. PLR and NLR, which are emerging biomarkers for systemic inflammation, were not associated with AVF dysfunction, aligning with the results of other studies in pediatrics.

Abstract Background and Aims Hepatocyte nuclear factor 1β (HNF1β)-associated disorder is a rare entity that may present with a wide range of clinical phenotypes. Genetic transmission is autosomal dominant, penetrance is incomplete, and expression is variable, which can contribute to different clinical presentations, raising difficulties to reach the diagnosis. The most common findings are renal cysts, responsible for kidney function decline, as well as diabetes mellitus, among other possible organs’ manifestations such as the pancreas, liver, brain and parathyroid gland. The disease arises through monoallelic single nucleotide deleterious variants (SNVs) or whole-gene deletions, in the chromosome 17q12. Method Retrospective analysis of patients with HNF1β-associated disease followed in pediatric nephrology unit, throughout the last 10 years (2013-2022), in our pediatric tertiary center. Data regarding demographic variables, along with family history, relevant clinical information and genetic variants were collected from electronical clinical files. Results A total of 6 patients were followed in our centre, mostly males (n = 5). Regarding age at diagnosis, two patients were diagnosed prenatally, owing to positive familial history and renal cysts, while for the other 4 patients (de novo mutations) the age at diagnosis ranged from one to 13 years-old (yo). Five patients presented with renal cysts, while the other patient presented with unilateral urinary tract dilation. Only one patient presented with diabetes mellitus. Regarding other possible comorbidities, two patients presented with neurodevelopmental disorders and one with hypertension. At presentation, 3 patients had chronic kidney disease stage 3. The mean decrease in glomerular filtration rate was 1.44 ml/min/year (according to Schwartz “bedside” formula). Creatinine levels almost doubled in 3 of the patients since referral (adolescents currently with 1.5-2 mg/dL), while remaining in the normal range in the other patients. Two patients presented with low grade proteinuria during follow-up (max protein/creatinine ratio 0.36 g/g). Values of calcium, transaminases and uric acid were normal in all patients. Familial history of kidney disease, namely cysts or chronic kidney disease, was positive in 3 patients. In terms of genetic transmission, 3 patients had SNVs, while the other 3 presented with larger deletions in chromosome 17q12. Conclusion In conclusion, in these patients, a high degree of suspicion is needed for diagnosis, owing to the rarity of the disease and heterogeneity of its manifestations. A multidisciplinary approach and genetic counseling are determinant for disease management. Families of the affected individuals should be tested, even if asymptomatic, to determine if the HNF1β variant was inherited or occurred de novo. Given the small number of patients, it would be important to widen the sample through a multicentric study.

Journal of Paediatrics and Child HealthEarly View Case Image Unusual axillary tumefaction Dr Sofia Poço Miranda, Corresponding Author Dr Sofia Poço Miranda sofiapocomiranda@gmail.com orcid.org/0000-0002-2656-0896 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr Cátia Juliana Silva, Dr Cátia Juliana Silva Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr André Costa e Silva, Dr André Costa e Silva orcid.org/0000-0001-7222-0190 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr André Costa Azevedo, Dr André Costa Azevedo orcid.org/0000-0001-8530-1803 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr Hugo Rodrigues, Dr Hugo Rodrigues Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this author Dr Sofia Poço Miranda, Corresponding Author Dr Sofia Poço Miranda sofiapocomiranda@gmail.com orcid.org/0000-0002-2656-0896 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr Cátia Juliana Silva, Dr Cátia Juliana Silva Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr André Costa e Silva, Dr André Costa e Silva orcid.org/0000-0001-7222-0190 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr André Costa Azevedo, Dr André Costa Azevedo orcid.org/0000-0001-8530-1803 Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this authorDr Hugo Rodrigues, Dr Hugo Rodrigues Pediatrics Department, Unidade Local de Saúde do Alto Minho, Santa Luzia Hospital, Viana do Castelo, PortugalSearch for more papers by this author First published: 04 January 2022 https://doi.org/10.1111/jpc.15886Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Early ViewOnline Version of Record before inclusion in an issue RelatedInformation